ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)

dbSNP: rs2124429140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381985 SCV001580562 pathogenic Diamond-Blackfan anemia 2020-08-31 criteria provided, single submitter clinical testing Loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19061985, 19773262). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RPL11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu41*) in the RPL11 gene. It is expected to result in an absent or disrupted protein product.

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